Unique variants in gene L2HGDH

Information The variants shown are described using the NM_024884.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Owner     
./. 1 - c.540+2580T>C - - - g.50758253A>G dbSNP L2HGDH_000014 rs17122357 0.97128 Admin
./. 1 - c.541-2125G>A - - - g.50752876C>T dbSNP L2HGDH_000013 rs12882001 0.95439 Admin
./. 1 - c.704-2065C>A - - - g.50747337G>T dbSNP L2HGDH_000012 rs12432105 0.47804 Admin
./. 1 - c.738+2989T>C - - - g.50742249A>G dbSNP L2HGDH_000011 rs4901009 0.65878 Admin
./. 1 - c.739-3999G>A - r.(=) p.(=) g.50740047C>T dbSNP L2HGDH_000010 rs17406958 0.02027 Admin
./. 1 - c.739-1621G>A - - - g.50737669C>T dbSNP L2HGDH_000009 rs4901008 0.62669 Admin
./. 1 - c.739-677G>A - r.(=) p.(=) g.50736725C>T dbSNP L2HGDH_000008 rs2153553 0.47635 Admin
./. 1 - c.1065-740T>C - - - g.50732947A>G dbSNP L2HGDH_000007 rs2355885 0.51351 Admin
./. 1 - c.1196+2826T>C - r.(=) p.(=) g.50729250A>G dbSNP L2HGDH_000006 rs4901007 0.48142 Admin
./. 1 - c.1196+5066G>C - - - g.50727010C>G dbSNP L2HGDH_000005 rs8013289 0.53041 Admin
./. 1 - c.1196+8116T>C - - - g.50723960A>G dbSNP L2HGDH_000004 rs910641 0.87162 Admin
./. 1 - c.1197-303T>C - - - g.50714274A>G dbSNP L2HGDH_000003 rs737078 0.48818 Admin
./. 1 - c.1197-223G>A - r.(=) p.(=) g.50714194C>T dbSNP L2HGDH_000002 rs737077 0.35642 Admin
./. 1 - c.*9445T>C - - - g.50704331A>G dbSNP L2HGDH_000001 rs4901000 0.11824 Admin
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